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Congenital cataract

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https://www.readbyqxmd.com/read/28432734/monogenic-diabetes-syndromes-locus-specific-databases-for-alstr%C3%A3-m-wolfram-and-thiamine-responsive-megaloblastic-anaemia
#1
Dewi Astuti, Ataf Sabir, Piers Fulton, Malgorzata Zatyka, Denise Williams, Carol Hardy, Gabriella Milan, Francesca Favaretto, Patrick Yu-Wai-Man, Julia Rohayem, Miguel López de Heredia, Tamara Hershey, Lisbeth Tranebjaerg, Jian-Hua Chen, Annabel Chaussenot, Virginia Nunes, Bess Marshall, Susan McAfferty, Vallo Tillmann, Pietro Maffei, Veronique Paquis-Flucklinger, Tarekign Geberhiwot, Wojciech Mlynarski, Kay Parkinson, Virginie Picard, Gema Esteban Bueno, Renuka Dias, Amy Arnold, Caitlin Richens, Richard Paisey, Fumi Urano, Robert Semple, Richard Sinnott, Timothy G Barrett
We developed a variant database for diabetes syndrome genes, using the Leiden Open Variation Database platform, containing observed phenotypes matched to the genetic variations. We populated it with 628 published disease associated variants (December 2016) for: WFS1 (n = 309), CISD2 (n = 3), ALMS1 (n = 268), and SLC19A2 (n = 48) for Wolfram type 1, Wolfram type 2, Alström and Thiamine-responsive megaloblastic anaemia syndromes respectively; and included 23 previously unpublished novel germline variants in WFS1 and 17 variants in ALMS1...
April 21, 2017: Human Mutation
https://www.readbyqxmd.com/read/28430328/outcome-of-various-hydrophobic-acrylic-intraocular-lens-implantations-in-children-with-congenital-cataract
#2
Jaspreet Sukhija, Savleen Kaur, Jagat Ram, Sonam Yangzes, Siddharth Madan, Jitender Jinagal
PURPOSE: To evaluate performance of different intraocular lenses (IOLs) after cataract surgery in children aged less than 2 years with regards to rates of visual axis opacification (VAO). METHODS: This was a retrospective chart review of children <2 years of age undergoing cataract surgery with primary posterior capsulotomy, anterior vitrectomy, and IOL over a period of 5 years with minimum follow-up of 1 year at a tertiary care institute. Children with microphthalmos, persistent fetal vasculature, traumatic cataract, aphakia, secondary IOLs, or any other coexisting ocular disease were excluded...
April 13, 2017: European Journal of Ophthalmology
https://www.readbyqxmd.com/read/28418495/molecular-genetic-analysis-of-pakistani-families-with-autosomal-recessive-congenital-cataracts-by-homozygosity-screening
#3
Jianjun Chen, Qiwei Wang, Patricia E Cabrera, Zilin Zhong, Wenmin Sun, Xiaodong Jiao, Yabin Chen, Gowthaman Govindarajan, Muhammad Asif Naeem, Shaheen N Khan, Muhammad Hassaan Ali, Muhammad Zaman Assir, Fawad Ur Rahman, Zaheeruddin A Qazi, Sheikh Riazuddin, Javed Akram, S Amer Riazuddin, J Fielding Hejtmancik
Purpose: To identify the genetic origins of autosomal recessive congenital cataracts (arCC) in the Pakistani population. Methods: Based on the hypothesis that most arCC patients in consanguineous families in the Punjab areas of Pakistan should be homozygous for causative mutations, affected individuals were screened for homozygosity of nearby highly informative microsatellite markers and then screened for pathogenic mutations by DNA sequencing. A total of 83 unmapped consanguineous families were screened for mutations in 33 known candidate genes...
April 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28412799/-long-term-outcomes-after-cataract-surgery-in-infants-with-congenital-cataract
#4
J Y Qi, W Xiao, M Y Wang, D X Zhao, W Pu
Objective: To observe the long-term outcomes after congenital cataract surgery performed prior to 36 months of age. Methods: A retrospective case study was conducted. Thirty-two cases (57 eyes) of congenital cataract were included from January 2004 to January 2012. All patients received intraocular lens (IOL) implantation with posterior continuous curvilinear capsulorhexies and anterior vitrectomy after cataract extraction and were followed up. At the last visit, the best corrected visual acuity (BCVA) was determined and postoperative complications were evaluated during follow-up with a longest time of 13 years...
April 11, 2017: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/28401204/protein-self-assembly-following-in-situ-expression-in-artificial-and-mammalian-cells
#5
Urszula M Migas, Michelle K Quinn, Jennifer J McManus
The self-assembly of proteins has been widely studied in controlled in vitro conditions, and more recently in biological environments. The self-assembly of proteins in biology can be a feature of the pathogenesis of protein condensation disease, or can occur during normal physiological function, for example during the formation of intracellular non-membrane bound organelles. To determine the mechanisms for the assembly process fully, controlled in vitro experiments using purified protein solutions are often required...
April 12, 2017: Integrative Biology: Quantitative Biosciences From Nano to Macro
https://www.readbyqxmd.com/read/28397227/-prenatal-diagnosis-and-follow-up-of-a-case-with-lowe-syndrome-caused-by-interstitial-deletion-of-xq25-26
#6
Xiangyu Zhu, Jie Li, Tong Ru, Ruifang Zhu, Chenyan Dai, Wanjun Wang, Yali Hu
OBJECTIVE: To report on a sporadic case of Lowe syndrome diagnosed prenatally with ultrasound examination and genetic testing. METHODS: Detailed sonographic fetal screening was performed by an experienced sonographer at 32 weeks of gestation. Fetal cranial magnetic resonance imaging (MRI) was applied to detect potential brain abnormality. Chromosomal microarray analysis (CMA) was conducted on amniotic fluid sample from the fetus and peripheral blood sample from the mother...
April 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28394407/novel-case-of-paternal-paracentric-inversion-causing-partial-trisomy-13-and-review-of-the-literature
#7
Chad Douglas, Stephen A Smith, Luis Rohena
Partial trisomies have often been reported secondary to inversion mutations. These occurrences are most frequently associated with pericentric inversions. In this report, we describe the first documented case of partial trisomy 13 secondary to a parental paracentric inversion, in this case a paternal paracentric 13q inversion. Our Patient exhibits a variety of clinical findings including global developmental delay with intellectual disability, sensorineural hearing loss, bilateral congenital polar cataracts with associated foveal and optic nerve hypoplasia, right retinal detachment, atrial septal defect, absence of corpus callosum, celiac disease, microcephaly, as well as other dysmorphic features...
April 10, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28393030/surgical-treatment-and-visual-outcomes-of-cataract-with-persistent-hyperplastic-primary-vitreous
#8
Li Li, Da-Bei Fan, Ya-Ting Zhao, Yun Li, Fang-Fei Cai, Guang-Ying Zheng
AIM: To evaluate the surgical treatment and visual outcomes of eyes with cataract and persistent hyperplastic primary vitreous (PHPV). METHODS: This retrospective study included patients with cataract and PHPV treated with various strategies. Anterior PHPV was treated using phacoemulsification with underwater electric coagulation on posterior capsule neovascularization, posterior capsulotomy, anterior vitrectomy, and intraocular lens (IOL) implantation. Posterior PHPV was treated with lensectomy, posterior vitrectomy, retinal photocoagulation, and IOL implantation or silicone oil tamponade...
2017: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/28393025/expression-of-lens-related-micrornas-in-transparent-infant-lenses-and-congenital-cataract
#9
Chang-Rui Wu, Min Ye, Li Qin, Yue Yin, Cheng Pei
AIM: To identify the expression of lens-related microRNAs (miRNAs) in the central epithelium of transparent infant lenses and congenital cataract. METHODS: Lens-related miRNAs were retrieved from PubMed database. The expression levels of these miRNAs in transparent infant lenses and congenital cataract were determined by stem-loop reverse transcription-polymerase chain reaction (RT-PCR). miRanda algorithm was used to predict the target genes of these differentially expressed miRNAs...
2017: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/28392901/mutation-analysis-of-connexin-50-gene-among-iranian-families-with-autosomal-dominant-cataracts
#10
Masoumeh Mohebi, Saeed Chenari, Abolfazl Akbari, Fariba Ghassemi, Mehran Zarei-Ghanavati, Ghasem Fakhraie, Nahid Babaie, Mansour Heidari
OBJECTIVES: Childhood cataract is a genetically heterogeneous eye disorder that results in visual impairment. The aim of this study was to identify the genetic mutations of connexin 50 gene among Iranian families suffered from autosomal dominant congenital cataracts (ADCC). MATERIALS AND METHODS: Families, having at least two members with bilateral familial congenital cataract, were selected for the study. Probands were evaluated by detailed ophthalmologist's examination, and the pedigree analysis was performed...
March 2017: Iranian Journal of Basic Medical Sciences
https://www.readbyqxmd.com/read/28392351/tug1-promotes-lens-epithelial-cell-apoptosis-by-regulating-mir-421-caspase-3-axis-in-age-related-cataract
#11
Guoxing Li, Huiyang Song, Weihua Yang, Shanshan Zhang, Kaihui Nan, Peirong Lu
BACKGROUND: Age-related cataract is among the most common chronic disorders of ageing and the apoptosis of lens epithelial cells contributes to non-congenital cataract development. We amid to explore the role of TUG1 and miR-421 in the age-related cataract. METHODS: The expression level of TUG1, miR-421 and caspase-3 were detected by RT-qPCR. The apoptotic-related protein, caspase-3, Bax and blc-2 were analyzed by western blot. We performed ultraviolet (UV) irradiation to induce SAR01/04l cell apoptosis which was analyzed by flow cytometry...
April 6, 2017: Experimental Cell Research
https://www.readbyqxmd.com/read/28359623/-congenital-cerulean-cataract
#12
M Ez-Zahraoui, I Ben Dali, O Lezrek, N Al Baroudi, N Boutimzine, M Laghmari, R Daoudi
No abstract text is available yet for this article.
April 2017: Journal Français D'ophtalmologie
https://www.readbyqxmd.com/read/28355541/a-combined-nmr-and-saxs-analysis-of-the-partially-folded-cataract-associated-v75d-%C3%AE-d-crystallin
#13
Matthew J Whitley, Zhaoyong Xi, Jonathan C Bartko, Malene Ringkjøbing Jensen, Martin Blackledge, Angela M Gronenborn
A cataract is a pathological condition characterized by the clouding of the normally clear eye lens brought about by deposition of crystallin proteins in the lens fiber cells. These protein aggregates reduce visual acuity by scattering or blocking incoming light. Chemical damage to proteins of the crystallin family, accumulated over a lifetime, leads to age-related cataract, whereas inherited mutations are associated with congenital or early-onset cataract. The V75D mutant of γD-crystallin is associated with congenital cataract in mice and was previously shown to un/fold via a partially folded intermediate...
March 28, 2017: Biophysical Journal
https://www.readbyqxmd.com/read/28351927/factors-influencing-intraocular-pressure-corneal-thickness-and-corneal-biomechanics-after-congenital-cataract-surgery
#14
Amir Faramarzi, Sepehr Feizi, Ali Maghsoodlou
AIMS: This study aims to compare intraocular pressure (IOP), central corneal thickness (CCT) and corneal biomechanics among patients with aphakia, patients with primary and secondary pseudophakia and matched controls following congenital cataract surgery and to investigate the factors influencing these variables. METHODS: This study included 36 aphakic eyes, 47 primary pseudophakic eyes and 30 secondary pseudophakic eyes. Thirty-four normal eyes of matched volunteers were recruited for comparisons...
March 28, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/28298635/novel-mutations-in-crygc-are-associated-with-congenital-cataracts-in-chinese-families
#15
Zilin Zhong, Zehua Wu, Liyun Han, Jianjun Chen
Congenital cataract (CC), responsible for about one-third of blindness in infants, is a major cause of vision loss in children worldwide. 10-25% of CC cases are attributed to genetic causes and CC is a clinically and genetically highly heterogeneous lens disorder in children. Autosomal dominant (AD) inheritance is the most commonly pattern. 195 unrelated non-syndromic ADCC families in this study are recruited from 15 provinces of China. Sanger sequencing approach followed by intra-familial co-segregation, in Silico analyses and interpretation of the variations according to the published guidelines of American College of Medical Genetics (ACMG), were employed to determine the genetic defects...
March 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28294978/discriminative-features-in-three-autosomal-recessive-cutis-laxa-syndromes-cutis-laxa-iia-cutis-laxa-iib-and-geroderma-osteoplastica
#16
REVIEW
Ariana Kariminejad, Fariba Afroozan, Bita Bozorgmehr, Alireza Ghanadan, Susan Akbaroghli, Hamid Reza Khorram Khorshid, Faezeh Mojahedi, Aria Setoodeh, Abigail Loh, Yu Xuan Tan, Nathalie Escande-Beillard, Fransiska Malfait, Bruno Reversade, Thatjana Gardeitchik, Eva Morava
Cutis laxa is a heterogeneous condition characterized by redundant, sagging, inelastic, and wrinkled skin. The inherited forms of this disease are rare and can have autosomal dominant, autosomal recessive, or X-linked inheritance. Three of the autosomal recessive cutis laxa syndromes, namely cutis laxa IIA (ARCL2A), cutis laxa IIB (ARCL2B), and geroderma osteodysplastica (GO), have very similar clinical features, complicating accurate diagnosis. Individuals with these conditions often present with cutis laxa, progeroid features, and hyperextensible joints...
March 15, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28278293/correction-deletion-at-the-gcnt2-locus-causes-autosomal-recessive-congenital-cataracts
#17
Bushra Irum, Shahid Y Khan, Muhammad Ali, Muhammad Daud, Firoz Kabir, Bushra Rauf, Fareeha Fatima, Hira Iqbal, Arif O Khan, Saif Al Obaisi, Muhammad Asif Naeem, Idrees A Nasir, Shaheen N Khan, Tayyab Husnain, Sheikh Riazuddin, Javed Akram, Allen O Eghrari, S Amer Riazuddin
[This corrects the article DOI: 10.1371/journal.pone.0167562.].
2017: PloS One
https://www.readbyqxmd.com/read/28272538/partial-duplication-of-the-crybb1-cryba4-locus-is-associated-with-autosomal-dominant-congenital-cataract
#18
Owen M Siggs, Shari Javadiyan, Shiwani Sharma, Emmanuelle Souzeau, Karen M Lower, Deepa A Taranath, Jo Black, John Pater, John G Willoughby, Kathryn P Burdon, Jamie E Craig
Congenital cataract is a rare but severe paediatric visual impediment, often caused by variants in one of several crystallin genes that produce the bulk of structural proteins in the lens. Here we describe a pedigree with autosomal dominant isolated congenital cataract and linkage to the crystallin gene cluster on chromosome 22. No rare single nucleotide variants or short indels were identified by exome sequencing, yet copy number variant analysis revealed a duplication spanning both CRYBB1 and CRYBA4. While the CRYBA4 duplication was complete, the CRYBB1 duplication was not, with the duplicated CRYBB1 product predicted to create a gain of function allele...
March 8, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28271591/a-novel-heterozygous-mutation-of-the-wfs1-gene-leading-to-constitutive-endoplasmic-reticulum-stress-is-the-cause-of-wolfram-syndrome
#19
Shuntaro Morikawa, Toshihiro Tajima, Akie Nakamura, Katsura Ishizu, Tadashi Ariga
BACKGROUND: Wolfram syndrome (WS) is a disorder characterized by the association of insulin-dependent diabetes mellitus (DM), diabetes insipidus, deafness, and optic nerve atrophy. WS is caused by WFS1 mutations encoding WFS1 protein expressed in endoplasmic reticulum (ER). During ER protein synthesis, misfolded and unfolded proteins accumulate, known as "ER stress". This is attenuated by the unfolded protein response (UPR), which recovers and maintains ER functions. Because WFS1 is a UPR component, mutant WFS1 might cause unresolvable ER stress conditions and cell apoptosis, the major causes underlying WS symptoms...
March 8, 2017: Pediatric Diabetes
https://www.readbyqxmd.com/read/28267770/correction-identification-of-a-novel-mutation-in-brd4-that-causes-autosomal-dominant-syndromic-congenital-cataracts-associated-with-other-neuro-skeletal-anomalies
#20
Hyun-Seok Jin, Jeonghyung Kim, Woori Kwak, Hyeonsoo Jeong, Gyu-Bin Lim, Cha Gon Lee
[This corrects the article DOI: 10.1371/journal.pone.0169226.].
2017: PloS One
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